Variant report

Variant	nsv983372
Chromosome Location	chr12:121717728-121721054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121719593..121722706-chr12:121731899..121734872,4	K562	blood:
2	chr12:121711495..121713766-chr12:121715448..121718429,2	MCF-7	breast:
3	chr12:121713637..121715499-chr12:121719759..121721908,2	MCF-7	breast:
4	chr12:121716004..121718724-chr12:121719656..121721765,2	MCF-7	breast:
5	chr12:121720961..121723976-chr12:121732566..121735002,3	MCF-7	breast:
6	chr12:121716004..121718724-chr12:121719656..121721765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110931	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186169789	chr12:121717735-121717736	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577835001	chr12:121717736-121717737	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545148140	chr12:121717765-121717766	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563342511	chr12:121717775-121717776	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145574122	chr12:121717781-121717782	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549049701	chr12:121717788-121717789	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560933381	chr12:121717804-121717805	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528496752	chr12:121717805-121717806	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144096975	chr12:121717825-121717826	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532565555	chr12:121717829-121717830	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546613311	chr12:121717835-121717836	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34216172	chr12:121717943-121717944	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7964571	chr12:121717956-121717957	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191433238	chr12:121717983-121717984	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551105555	chr12:121718027-121718028	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569395430	chr12:121718028-121718029	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142564746	chr12:121718103-121718104	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1151886	chr12:121718111-121718112	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56028307	chr12:121718122-121718123	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533142554	chr12:121718195-121718196	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183398357	chr12:121718203-121718204	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573774672	chr12:121718205-121718206	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542871020	chr12:121718264-121718265	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553013802	chr12:121718270-121718271	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559717255	chr12:121718280-121718281	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372928160	chr12:121718332-121718333	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112078152	chr12:121718375-121718376	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575380999	chr12:121718393-121718394	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542883340	chr12:121718420-121718421	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560819279	chr12:121718469-121718470	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1151887	chr12:121718475-121718476	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540197782	chr12:121718476-121718477	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564942567	chr12:121718512-121718513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532638176	chr12:121718538-121718539	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550838322	chr12:121718539-121718540	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569418701	chr12:121718570-121718571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527663994	chr12:121718588-121718589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530260490	chr12:121718590-121718591	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113416715	chr12:121718611-121718612	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541483812	chr12:121718667-121718668	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142622116	chr12:121718678-121718679	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552999799	chr12:121718794-121718795	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187887913	chr12:121718797-121718798	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139526683	chr12:121718802-121718803	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199570233	chr12:121718819-121718820	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372734226	chr12:121718851-121718852	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1151888	chr12:121718894-121718895	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191211067	chr12:121718905-121718906	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182171619	chr12:121718951-121718952	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186493701	chr12:121718997-121718998	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:121707400-121720200	Weak transcription	K562	blood
7	chr12:121707400-121733200	Weak transcription	HSMM	muscle
8	chr12:121707600-121719200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
10	chr12:121708800-121730200	Weak transcription	HepG2	liver
11	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
12	chr12:121709200-121719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:121709200-121726000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:121709400-121718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:121711400-121719800	Weak transcription	Small Intestine	intestine
16	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
17	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:121712000-121725400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:121712200-121726000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:121712400-121718200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:121712400-121719000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:121712400-121719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:121712400-121721000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:121712400-121721000	Weak transcription	Dnd41	blood
28	chr12:121712400-121727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
31	chr12:121712600-121719000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:121712600-121720800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121712600-121726200	Weak transcription	Thymus	Thymus
34	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:121713000-121728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121713600-121719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:121714200-121718000	Enhancers	HUVEC	blood vessel
39	chr12:121714600-121719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:121714800-121717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:121715200-121730200	Weak transcription	A549	lung
42	chr12:121715400-121731400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:121715600-121718000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:121715600-121722400	Weak transcription	Osteobl	bone
45	chr12:121715600-121723000	Weak transcription	Fetal Kidney	kidney
46	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:121715600-121733000	Weak transcription	NHEK	skin
48	chr12:121715800-121717800	Strong transcription	Fetal Brain Female	brain
49	chr12:121715800-121718000	Enhancers	Ovary	ovary
50	chr12:121716200-121717800	Enhancers	Right Atrium	heart

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